VANCOUVER, British Columbia, October 1, 2026
EpiSign, a provider of genomic and epigenomic diagnostic technologies, announced the launch of METRIC 5-base, a new analysis capability designed to enable comprehensive episignature analysis across genome-sequencing platforms. The technology expands the ability to examine DNA methylation patterns alongside genomic information, supporting the identification and interpretation of molecular signatures associated with genetic disorders. Episignatures are disease-associated patterns of DNA methylation that can provide functional information about gene regulation and may help resolve cases in which conventional genetic testing does not produce a definitive diagnosis. The new METRIC 5-base capability is designed to work with whole-genome sequencing and other sequencing-based data, potentially allowing laboratories and researchers to integrate epigenomic information into existing genomic workflows. EpiSign said the launch represents an important development in its efforts to make episignature analysis more accessible across different sequencing technologies and strengthen the use of epigenomic data in genomic medicine.
METRIC 5-base Expands Episignature Analysis
The METRIC 5-base technology is designed to analyze DNA methylation information generated through sequencing approaches that capture all five DNA bases. Traditional DNA sequencing typically focuses on the four canonical DNA bases—adenine, cytosine, guanine and thymine—while certain sequencing technologies can provide additional information about modified DNA bases and methylation states. DNA methylation is an important epigenetic mechanism involved in regulating gene expression and cellular function. Abnormal methylation patterns can occur when genetic variants affect genes or molecular pathways that control epigenetic regulation. These distinctive patterns, known as episignatures, can serve as functional biomarkers associated with specific genetic conditions. By expanding analysis across sequencing platforms, METRIC 5-base is intended to help laboratories examine these molecular patterns using genomic sequencing data and potentially increase the information available from a single testing workflow.
Connecting Genomic and Epigenomic Information
The launch reflects the growing role of multiomic analysis in precision medicine. Genetic sequencing can identify DNA variants, but not every variant can be readily classified as disease-causing based solely on its sequence. Epigenomic information can provide an additional layer of biological evidence by showing how a genetic alteration may influence gene regulation and cellular function. Episignatures have emerged as a useful approach for interpreting certain rare genetic disorders, particularly in cases where patients have clinical features suggestive of a genetic condition but conventional testing produces uncertain or inconclusive findings. EpiSign’s technology is designed to identify disease-associated methylation patterns and compare patient data with established reference signatures. The company said METRIC 5-base expands the potential for this type of epigenetic diagnostic analysis across sequencing platforms, creating additional opportunities for genomic laboratories to incorporate episignature testing into their workflows.
Advertisement
Advancing Rare Disease Diagnosis
Rare genetic disorders frequently present complex diagnostic challenges because symptoms can overlap across multiple conditions and individual genetic variants may be difficult to interpret. Episignature analysis can provide functional evidence that complements DNA variant information and clinical assessment. By evaluating methylation patterns across the genome, laboratories may gain additional insights into whether a molecular alteration is affecting biological pathways associated with a particular disorder. EpiSign has developed a growing collection of episignatures associated with genetic syndromes, supporting the application of epigenomic testing in rare disease diagnosis. The company’s METRIC 5-base launch is intended to broaden access to this analytical capability by supporting data generated through genome-sequencing platforms rather than limiting analysis to a specific testing technology.
The development of METRIC 5-base highlights the continuing convergence of genomic sequencing and epigenomic diagnostics. As sequencing technologies generate increasingly comprehensive molecular information, analytical platforms capable of interpreting multiple biological layers may help researchers and clinical laboratories extract greater diagnostic value from genomic data. EpiSign’s latest technology is positioned to support this trend by enabling episignature analysis across genome-sequencing platforms, potentially strengthening the role of DNA methylation biomarkers in rare disease research and genomic medicine. The technology also underscores the increasing importance of epigenomics in understanding how genetic changes influence biological function and disease.
Source: EpiSign press release
